We report a case of Carney complex who demonstrated most of the disease-defining features and an unusual manifestation of choroidal malignant melanoma not previously reported in the literature.
A 16-year-old female patient initially presented to the endocrinologists in 1991 with secondary amenorrhea and raised prolactin levels, diagnosed to have a pituitary microprolactinoma. Past history included episodes of vague syncope and palpitations treated as complex partial seizures since childhood. Echocardiogram performed to investigate her recurrent syncopal attacks revealed an atrial myxoma, which was removed in 1998. This led to the diagnosis of Carney complex. Genetic screening showed PRKAR-A1 gene mutation, which was absent in both her parents, suggesting sporadic origin.
During the course of follow-up she remained eupituitary. Two thyroid nodules were identified on screening which appear to be benign. Loss of cortisol circadian rhythm was noted, and serum cortisol fails to suppress after dexamethasone treatment. However serial 24 h urine free cortisol levels remained normal with no clinical evidence of Cushings syndrome, and with normal adrenals on CT imaging. In 2002 she had a local resection of a choroidal melanoma in the right eye. Histology suggested highly pleomorphic aggressive malignant melanoma, but there has been no recurrence over 7 years of follow-up.
Carney complex is a multiple neoplasia syndrome characterised by myxomas at various sites, endocrine, neural tumours and lentiginosis, all of which are usually benign. Endocrine tumours include primary pigmented nodular adrenocortical dysplasia (PPNAD), gonadal tumours, thyroid nodules and pituitary adenomas. Malignant melanoma is not a lesion associated with Carney complex, and only one previous case of maxillary sinus malignant melanoma is reported in the literature. This case highlights the need to remain aware of the multiple tumour types that may emerge in patients with Carney complex, and suggests an additional tumour that may be a part of the syndrome.